Article

Mitochondrial disorders have a broad clinical spectrum and are genetically
heterogeneous, involving two genomes. These disorders may be develop at any age,
with isolated or multiple system involvement, and any pattern of inheritance.
Neurological involvement is the most frequent, and concerns muscular, peripheral
and central nervous system. Among these diverse signs, some are suggestive of
mitochondrial disease, such as progressive external ophthalmoplegia, exercise
intolerance, psychomotor regression, stroke-like episodes, refractory epilepsy
and Epilepsia Partialis Continua. Others are less specific and mitochondrial
hypothesis may be evocated because of either association of different
neuromuscular signs or a multisystemic involvement. This review describes the
wealth of this neurological and neuromuscular symptomatology through different
syndromes reported in the literature, according to preponderant signs and to
modes of inheritance, as key elements to guide genetics testing.
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Langue : ANGLAIS